RareLink Implementation Guide
2.0.0 - 2.0.0

RareLink Implementation Guide - Local Development build (v2.0.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

: Genomic Source Class Value Set - JSON Representation

Draft as of 2025-05-12

Raw json | Download

{
  "resourceType" : "ValueSet",
  "id" : "genomic-source-class-vs",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet genomic-source-class-vs</b></p><a name=\"genomic-source-class-vs\"> </a><a name=\"hcgenomic-source-class-vs\"> </a><a name=\"genomic-source-class-vs-en-US\"> </a><ul><li>Include these codes as defined in <a href=\"http://loinc.org\"><code>http://loinc.org</code></a><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href=\"https://loinc.org/LA6683-2/\">LA6683-2</a></td><td>Germline</td></tr><tr><td><a href=\"https://loinc.org/LA6684-0/\">LA6684-0</a></td><td>Somatic</td></tr><tr><td><a href=\"https://loinc.org/LA10429-1/\">LA10429-1</a></td><td>Fetal</td></tr><tr><td><a href=\"https://loinc.org/LA18194-3/\">LA18194-3</a></td><td>Likely germline</td></tr><tr><td><a href=\"https://loinc.org/LA18195-0/\">LA18195-0</a></td><td>Likely somatic</td></tr><tr><td><a href=\"https://loinc.org/LA18196-8/\">LA18196-8</a></td><td>Likely fetal</td></tr><tr><td><a href=\"https://loinc.org/LA18197-6/\">LA18197-6</a></td><td>Unknown genomic origin</td></tr><tr><td><a href=\"https://loinc.org/LA26807-0/\">LA26807-0</a></td><td>De novo</td></tr></table></li></ul></div>"
  },
  "url" : "https://rarelink.bih-charite.de/fhir/ValueSet/genomic-source-class-vs",
  "version" : "2.0.0",
  "name" : "GenomicSourceClassVS",
  "title" : "Genomic Source Class Value Set",
  "status" : "draft",
  "date" : "2025-05-12T08:03:20+00:00",
  "publisher" : "Berlin Institute of Health - Charité Universitätsmedizin Berlin",
  "contact" : [
    {
      "name" : "Berlin Institute of Health - Charité Universitätsmedizin Berlin",
      "telecom" : [
        {
          "system" : "url",
          "value" : "https://github.com/BIH-CEI/RareLink"
        },
        {
          "system" : "email",
          "value" : "adam.graefe@charite.de"
        }
      ]
    }
  ],
  "description" : "LOINC LA codes enumerating germline, somatic, fetal, etc.",
  "compose" : {
    "include" : [
      {
        "system" : "http://loinc.org",
        "concept" : [
          {
            "code" : "LA6683-2",
            "display" : "Germline"
          },
          {
            "code" : "LA6684-0",
            "display" : "Somatic"
          },
          {
            "code" : "LA10429-1",
            "display" : "Fetal"
          },
          {
            "code" : "LA18194-3",
            "display" : "Likely germline"
          },
          {
            "code" : "LA18195-0",
            "display" : "Likely somatic"
          },
          {
            "code" : "LA18196-8",
            "display" : "Likely fetal"
          },
          {
            "code" : "LA18197-6",
            "display" : "Unknown genomic origin"
          },
          {
            "code" : "LA26807-0",
            "display" : "De novo"
          }
        ]
      }
    ]
  }
}